AutismKB 2.0

Annotation Detail for SMC1A


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Basic Information Top
Gene Symbol:SMC1A ( CDLS2,DKFZp686L19178,DXS423E,KIAA0178,MGC138332,SB1.8,SMC1,SMC1L1,SMC1alpha,SMCB )
Gene Full Name: structural maintenance of chromosomes 1A
Band: Xp11.22
Quick LinksEntrez ID:8243; OMIM: 300040; Uniprot ID:SMC1A_HUMAN; ENSEMBL ID: ENSG00000072501; HGNC ID: 11111
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
282N6-acetyllysine.
358Phosphoserine.
360Phosphoserine.
437N6-acetyllysine.
536N6-acetyllysine.
648N6-acetyllysine.
713N6-acetyllysine.
951Phosphoserine.
957Phosphoserine; by ATM.
962Phosphoserine.
966Phosphoserine; by ATM and ATR.
970Phosphoserine.
Location(AA) Modifications Resource
360Phosphoserine.Swiss-Prot 53.0
360PhosphoserinePhospho.ELM 6.0
957Phosphoserine (by ATM).Swiss-Prot 53.0
957Phosphoserine (ATM)Phospho.ELM 6.0
962Phosphoserine.Swiss-Prot 53.0
962PhosphoserinePhospho.ELM 6.0
966Phosphoserine (by ATM and ATR).Swiss-Prot 53.0
966Phosphoserine (ATM)Phospho.ELM 6.0
Location(AA) Modification Resource
34N-linkedHMM predict
40N-linkedHMM predict
60Phosphothreonine(PKC)HMM predict
318Phosphoserine(PKG)HMM predict
358Phosphoserine(ATM)HMM predict
358Phosphoserine(CK1)HMM predict
360Phosphoserine(ATM)HMM predict
383Phosphoserine(PKC)HMM predict
441Phosphotyrosine(INSR)HMM predict
448Phosphoserine(PKG)HMM predict
682Phosphothreonine(CK2)HMM predict
951Phosphoserine(ATM)HMM predict
956Phosphoserine(CK2)HMM predict
956Phosphoserine(CK1)HMM predict
957Phosphoserine(ATM)HMM predict
966Phosphoserine(ATM)HMM predict
966Phosphoserine(IKK)HMM predict
1091N-linkedHMM predict
1194Phosphotyrosine(EGFR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006306
  • Location:chrX 53417796-53466342
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 53406794 53407077 283 10861
Rb shRbQuiescentGSE19898 53415781 53415950 169 1931
TFAP2C MCF7GSE21234 53399846 53400234 388 17757
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 53454584 53454789 205 0
CTCF G2GSE9613 53418447 53418863 416 0
CTCF G2GSE9613 53423908 53424923 1015 0
CTCF G2GSE9613 53444505 53444767 262 0
CTCF G2GSE9613 53449219 53449680 461 0
CTCF G2GSE9613 53465671 53465911 240 0
E2F4 G0GSE7516 53465234 53466474 1240 0
FOXA1 MCF7GSE15244 53426166 53427872 1706 0
FoxA1 MCF7MACSdata 53427295 53427683 388 0
H3K4me3 colorectalcancer 53465089 53465671 582 0
H3ac HepG2E 53464336 53465972 1636 0
LIN9 G0GSE7516 53465126 53466285 1159 0
LIN9 SGSE7516 53465440 53466543 1103 0
Nanog hESGSE18292 53443445 53443901 456 0
Oct1 HelaGSE14283 53435491 53435539 48 0
Oct1 HelaGSE14283 53443481 53443543 62 0
PHF8 293TGSE20725 53465299 53466715 1416 0
PHF8 HeLaGSE20725 53465584 53466828 1244 0
Rb GrowingGSE19898 53465775 53466058 283 0
Rb QuiescentGSE19898 53465551 53466059 508 0
Rb QuiescentGSE19898 53466064 53466481 417 0
Rb SenescentGSE19898 53465453 53466700 1247 0
Rb shRbSenescenceGSE19898 53465684 53465948 264 0
Stat6 IL-4-hr4GSE17850 53446924 53447457 533 0
TAF HelaGSE8489 53465089 53465563 474 0
TAF k562GSE8489 53464299 53465744 1445 0
hScc1 G2GSE9613 53447693 53448012 319 0
hScc1 G2GSE9613 53449148 53449680 532 0
p130 QuiescentGSE19898 53465319 53467014 1695 0
p130 SenescentGSE19898 53464937 53466780 1843 0
p130 shRbQuiescentGSE19898 53464983 53467106 2123 0
p130 shRbSenescentGSE19898 53465169 53467146 1977 0
p130 G0GSE7516 53465126 53466061 935 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7b hsa-let-7b 22 15131085
hsa-let-7b* hsa-let-7b 22 15131085
hsa-let-7e hsa-let-7e 19 15131085
hsa-let-7e* hsa-let-7e 19 15131085
hsa-miR-103 hsa-mir-103-2 20 15131085
hsa-miR-103 hsa-mir-103-1 5 15131085
hsa-miR-141 hsa-mir-141 12 15131085
hsa-miR-141* hsa-mir-141 12 15131085
hsa-miR-145 hsa-mir-145 5 15131085
hsa-miR-145* hsa-mir-145 5 15131085
hsa-miR-15a hsa-mir-15a 13 15131085
hsa-miR-15a* hsa-mir-15a 13 15131085
hsa-miR-15b hsa-mir-15b 3 15131085
hsa-miR-15b* hsa-mir-15b 3 15131085
hsa-miR-16 hsa-mir-16-1 13 15131085
hsa-miR-16 hsa-mir-16-2 3 15131085
hsa-miR-199b-3p hsa-mir-199b 9 15131085
hsa-miR-199b-5p hsa-mir-199b 9 15131085
hsa-miR-23a hsa-mir-23a 19 15131085
hsa-miR-23a* hsa-mir-23a 19 15131085
hsa-miR-24 hsa-mir-24-1 9 15131085
hsa-miR-24 hsa-mir-24-2 19 15131085
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
112 mRNA repression TRUE let-7e SMC1L1 in vitro reporter gene assay (Luciferase) 15131085
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000072501 n_a n_a n_a "epithelium, lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, sarcoma"
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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